De Carvalho, ER;
Robson, AG;
Arno, G;
Boon, C;
Webster, AA;
Michaelides, M;
(2020)
Enhanced S-cone syndrome: spectrum of clinical, imaging, electrophysiological and genetic findings in a retrospective case series of 56 patients.
Ophthalmology Retina
10.1016/j.oret.2020.07.008.
(In press).
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Abstract
Purpose: To describe the detailed phenotype, long-term clinical course, clinical variability, and genotype of patients with Enhanced S-Cone Syndrome (ESCS). / Design: Retrospective case series. / Participants: Fifty-six patients with ESCS. / Methods: Clinical history, examination, imaging and electrophysiological findings of 56 patients (age range 1 – 75 years) diagnosed with ESCS were reviewed. Diagnosis was established by molecular confirmation of disease-causing variants in the NR2E3 gene (n = 38) or by diagnostic full-field electroretinography (ERG) findings (n = 18). / Main outcome measures: Age at onset of visual symptoms, best-corrected visual acuity (BCVA), quantitative age-related electrophysiological decline and imaging findings. / Results: The mean age at onset of visual symptoms was 4.0 years, and median age at presentation was 20.5 years, with the mean follow-up interval being 6.1 years. Six patients were assessed once. Disease-causing variants in NR2E3 were identified in 38 patients. The mean logMAR BCVA of the better-seeing eye was 0.32 at baseline and 0.39 at follow-up. BCVA remained stable in the majority of eyes (76%, 76/100), with a mean BCVA change of 0.07 logMAR during follow-up. Nyctalopia was the commonest initial symptom, reported in 92.9% (52/56) of patients. Clinical findings were highly variable, and included foveomacular schisis (41.1%, 26/56), yellow/white dots (57.1%, 32/56), nummular pigmentation (85.7%, 48/56), torpedo-like lesions (10.7%, 6/56) and circumferential subretinal fibrosis (7.1%, 4/56). Macular and peripheral patterns of autofluorescence were classified as (i) minimal change, (ii) hypoautofluorescent (mild diffuse; moderate speckled; moderate diffuse; advanced), or (iii) hyperautofluorescent flecks. One patient had undetectable ERGs; quantification of the main ERG components in all other patients revealed amplitude and peak time variability, but with pathognomonic ERG features. The main ERG components showed evidence of age-related worsening over 6.7 decades, at a rate indistinguishable from that seen in unaffected control subjects. Eighteen sequence variants in NR2E3 were identified, including four novel missense changes. / Conclusions: ESCS has a highly variable phenotype with relative clinical and imaging stability over time. The ERGs have pathognomonic features in most, but quantitative assessment reveals variability and a normal mean rate of age-related decline, consistent with largely non-progressive peripheral retinal dysfunction.
| Type: | Article |
|---|---|
| Title: | Enhanced S-cone syndrome: spectrum of clinical, imaging, electrophysiological and genetic findings in a retrospective case series of 56 patients |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.oret.2020.07.008 |
| Publisher version: | https://doi.org/10.1016/j.oret.2020.07.008 |
| Language: | English |
| Additional information: | This is an Open Access article published under a Creative Commons Attribution 4.0 International (CC BY 4.0) Licence (https://creativecommons.org/licenses/by/4.0/). |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10106016 |
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